TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

Science

Volumn 319, Issue 5870, 2008, Pages 1668-1672

  Sreedharan, Jemeen ^a   Blair, Ian P ^b,c   Tripathi, Vineeta B ^a   Hu, Xun ^a   Vance, Caroline ^a   Rogelj, Boris ^a   Ackerley, Steven ^a   Durnall, Jennifer C ^b   Williams, Kelly L ^b   Buratti, Emanuele ^d   Baralle, Francisco ^d   De Belleroche, Jacqueline ^e   Mitchell, J Douglas ^f   Leigh, P Nigel ^a   Al Chalabi, Ammar ^a   Miller, Christopher C ^a   Nicholson, Garth ^b,c,g   Shaw, Christopher E ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ANZAC RESEARCH INSTITUTE   (Australia)

^c University of Sydney   (Australia)

^d INTERNATIONAL CENTRE FOR GENETIC ENGINEERING AND BIOTECHNOLOGY   (Italy)

^e CHARING CROSS HOSPITAL   (United Kingdom)

^f ROYAL PRESTON HOSPITAL   (United Kingdom)

^g Department of Microbiology and Infectious Diseases   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; TAR DNA BINDING PROTEIN; UNCLASSIFIED DRUG;

APOPTOSIS; DEVELOPMENTAL BIOLOGY; EMBRYONIC DEVELOPMENT; GENOME; IDENTIFICATION METHOD; MUTATION; NERVOUS SYSTEM DISORDER; PATHOGEN; POULTRY; PROTEIN;

AMYOTROPHIC LATERAL SCLEROSIS; APOPTOSIS; ARTICLE; CHICK EMBRYO; CHROMOSOME 1P; DEVELOPMENTAL DISORDER; EMBRYO DEVELOPMENT; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; NERVE DEGENERATION; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; UBIQUITINATION;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; APOPTOSIS; CHICK EMBRYO; CHO CELLS; CHROMOSOMES, HUMAN, PAIR 1; CRICETINAE; CRICETULUS; DNA-BINDING PROTEINS; EMBRYONIC DEVELOPMENT; FEMALE; HUMANS; MALE; MICROSATELLITE REPEATS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION, MISSENSE; NEURONS;

EID: 41149180753     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1154584     Document Type: Article

References (31)

1. C. E. Shaw, A. Al-Chalabi, N. Leigh, Curr. Neurol. Neurosci. Rep. 1, 69 (2001).
2. D. R. Rosen et al., Nature 362, 59 (1993).
3. C. E. Shaw et al., Neurology 49, 1612 (1997).
4. M. E. Gurney et al., Science 264, 1772 (1994).
5. S. Hadano et al., Nat. Genet. 29, 166 (2001).
6. D. M. Ruddy et al., Am. J. Hum. Genet. 73, 390 (2003).
7. P. C. Sapp et al., Am. J. Hum. Genet. 73, 397 (2003).
8. B. A. Hosler et al., JAMA 284, 1664 (2000).
9. C. Vance et al., Brain 129, 868 (2006).
10. M. Morita et al., Neurology 66, 839 (2006).
11. P. N. Leigh et al., Brain 114, 775 (1991).
12. A. M. Lipton, C. L. White III, E. H. Bigio, Acta Neuropathol. (Berlin) 108, 379 (2004).
13. M. Neumann et al., Science 314, 130 (2006).
14. T. Arai et al., Biochem. Biophys. Res. Commun. 351, 602 (2006).
15. C. Amador-Ortiz et al., Ann. Neurol. 61, 435 (2007).
16. M. Hasegawa et al., Brain 130, 1386 (2007).
17. H. Nakashima-Yasuda et al., Acta Neuropathol. (Berlin) 114, 221 (2007).
18. S. H. Freeman, T. Spires-Jones, B. T. Hyman, J. H. Growdon, M. P. Frosch, J. Neuropathol. Exp. Neurol. 67, 62 (2008).
19. J. D. Rothstein, Ann. Neurol. 61, 382 (2007).
20. Materials and methods are available as supporting material on Science Online.
21. Single-letter abbreviations for the amino acid residues are as follows: A, Ala; C, Cys; D, Asp; E, Glu; F, Phe; G, Gly; H, His; I, Ile; K, Lys; L, Leu; M, Met; N, Asn; P, Pro; Q, Gln; R, Arg; S, Ser; T, Thr; V, Val; W, Trp; and Y, Tyr.
22. B. R. Brooks, R. G. Miller, M. Swash, T. L. Munsat, Amyotroph. Lateral Scler. Other Motor Neuron Disord. 1, 293 (2000).
23. G. D. Ghadge et al., Neurobiol. Dis. 21, 194 (2006).
24. E. Buratti, F. E. Baralle, Front. Biosci. 13, 867 (2008).
25. E. Buratti et al., J. Biol. Chem. 280, 37572 (2005).
26. M. Mishra et al., Acta Neuropathol. (Berlin) 114, 81 (2007).
27. M. M. Abhyankar, C. Urekar, P. P. Reddi, J. Biol. Chem. 282, 36143 (2007).
28. S. Rollinson et al., Neurosci. Lett. 419, 1 (2007).
29. A. Schumacher et al., Neurobiol. Aging, published online 3 July 2007, 10.1016/j.neurobiolaging.2007.05.022, in press.
30. I. Gijselinck et al., Neurobiol. Aging, published online 3 July 2007, 10.1016/j.neurobiolaging.2007.11.002, in press.
31. This publication is dedicated to the memory of Steven Ackerley, an outstanding young scientist. We thank the patients and families who have contributed to this project and to B. Coote, C. Cecere, J. Gardham, the MRC Neurodegenerative Diseases Brain Bank and the Australian Motor Neurone Disease (MND) DNA Bank for assistance in sample collection. This work was supported by grants from The Wellcome Trust; European Union contract LSHM-CT-2003-503330 (APOPIS); American ALS Association; Motor Neurone Disease Association, UK; Medical Research Council, UK; the Middlemass family; Jack Cigman; King's College Hospital Charity; the Psychiatry Research Trust of the Institute of Psychiatry; and the Motor Neurone Disease Research Institute of Australia (MNDRIA).